Consider testing the whole family for alpha-1
When you identify a patient with alpha-1-antitrypsin (A1AT) deficiency (also known as alpha-1), you identify an entire family at risk.1,2
- Since alpha-1 is a genetic disease, any deficient allele should prompt a discussion of testing the whole family.
- Family testing may help reduce the risk of alpha-1 attributable lung disease for future generations.
The ATS/ERS also provide guidance for testing family members of individuals with alpha-12
- Test siblings of individuals with alpha-1
- Consider testing offspring, parents, or distant relatives of individuals with alpha-1
Why test families for alpha-1?
Alpha-1 occurs when a child inherits 1 abnormal allele from each of his/her parents.
A. If 1 parent has 2 abnormal alleles and the other parent has 2 normal alleles (eg, a Pi MM type), then the child has a 100% chance of being MZ
B. If both parents are heterozygous (1 normal M allele and 1 abnormal Z allele):
- Children have a:
- 25% chance of having alpha-1
- 50% chance of being heterozygotes (MZ)
- 25% chance of having 2 normal alleles